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Globoid Cell Leukodystrophy
GALC KO- Loss of Function

Globoid Cell Leukodystrophy

  • Genotype

    GALC KO

  • Mechanism

    Loss of Function

  • Phenotype

    Locomotor activity, Spasticity, Tremors, Motor coordination, Auditory response, Exploratory activity, Muscle strength

  • Biomarker

    Psychosine, NfL, GFAP

  • Gene Expression Markers

    ugt8, asah1, olig2, sox10, mbp, plp1, mag, iba1, cd68

  • Physiology Changes

    Posture, Reflex responses 

  • Histology Grading Endpoint

    Demyelination, Presence of Globoid cells, Loss of oligodendrocytes and myelin sheath disruption, Peripheral nerve fiber loss

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